Papillon-Lefevre Syndrome in 9 Year Old Pediatric Patient

Papillon-Lefevre syndrome (PLS), 1st described by two French physicians Papillon and Lefebvre in 1924, is an extremely rare genodermatosis inherited as an autosomal recessive trait, affecting children between the ages 1-4 years. The disorder is characterized by diffuse palmoplantar keratoderma and premature loss of both deciduous and permanent teeth. The second major feature of PLS is severe periodontitis, which starts at age 3 or 4 years. The development and eruption of the deciduous teeth proceed normally, but their eruption is associated with gingival inflammation and subsequent rapid destruction of the periodontium. After exfoliation, the inflammation subsides and the gingiva appears healthy. Nail changes are apparent in advanced cases, manifested by transverse grooving and fissuring.

The cause of PLS is not well understood, research groups have reported that loss-of-function mutations affecting both the alleles of the cathepsin-C gene, located on chromosome 11q14.1-q14.3, are associated with PLS.5 The cathepsin-C gene is expressed in epithelial regions commonly affected by PLS such as palms, soles, knees, and keratinized oral gingiva. It is also expressed at high levels in various immune cells including polymorphonuclear leukocytes, macrophages, and their precursors. In PLS defect in immune cells especially PMNLs is noted. Read more.....................................